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Article

The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic testing and molecular biomarkers - 1 Nov 2014

Maruoka Ryo, Takenouchi Toshiki, Torii Chiharu, Shimizu Atsushi, Misu Kumiko, Higasa Koichiro, Matsuda Fumihiko, Ota Arihito, Tanito Katsumi, Kuramochi Akira, Arima Yoshimi, Otsuka Fujio, Yoshida Yuichi, Moriyama Keiji, Niimura Michihito, Saya Hideyuki, Kosaki Kenjiro

Abstract excerpt

AIMS: We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addition, other causative genes for classic genetic syndromes were set as the target genes for coverage analysis. RESULTS: The protocol identified 30 nonsense, 19...

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Identifiers

PMID: 25325900
DOI: 10.1089/gtmb.2014.0109
PMCID: PMC4216997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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